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Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Geno

Efficient expansion and dopaminergic differentiation of human fetal ventral midbrain neural stem cells by midbrain morphogens

Human fetal midbrain tissue grafting has provided proof-of-concept for dopamine cell replacement therapy (CRT) in Parkinson's disease (PD). However, limited tissue availability has hindered the development and widespread use of this experimental therapy. Here we present a method for generating large numbers of midbrain dopaminergic (DA) neurons based on expanding and differentiating neural stem/pr

Recombinant human factor VIIa (rFVIIa) cleared principally by antithrombin following IV administration in haemophilia patients.

Objective: The objective of the present study was to evaluate the pharmacokinetics and the clearance pathways of rFVIIa after intravenous administration to haemophilia patients. Methods: Ten severe haemophilia patients were included in the study; all patients were intravenously administered a clinical relevant dose of 90 μg/kg (1.8 nmol/kg) rFVIIa. Blood samples were collected consecutively to des

Use of a National Clinical Final Examination in a Bachelor’s Programme in Nursing to Assess Clinical Competence—Students’, Lecturers’ and Nurses’ Perceptions

Objective: The objective of this study was to evaluate the perceptions of students, lecturers, nurses and clinical lecturers regarding the ability of the National Clinical Final Examination (NCFE) to assess clinical competence, and whether the assessment was consistent with the qualifications for a Bachelor of Science in Nursing as outlined by the Swedish Higher Education Authority. The NCFE is di

Inhibition of Circulating Dipeptidyl Peptidase 4 Activity in Patients with Metastatic Prostate Cancer

Cancer is responsible for many deaths and is a major source of healthcare expenditures. The identification of new, non-invasive biomarkers might allow improvement of the direct diagnostic or prognostic ability of already available tools. Here, we took the innovative approach of interrogating the activity of exopeptidases in the serum of cancer patients with the aim of establishing a distinction ba

Reaction behavior and evolution of phases during the sintering of Ta–Al powder mixtures

Intermetallic compounds based on tantalum aluminides are of considerable interest in various industrial applications. In this work, the formation of tantalum aluminides has been studied in elemental powder mixtures containing 25, 50 and 66.7 at% Ta. A differential scanning calorimeter (DSC) was used to heat the samples up to 1500 K at 15 K min−1. Phase evolution was studied by heating a few sample

In Vitro Selection of RNA Aptamers Directed Against Protein E: A Haemophilus influenzae Adhesin. : a Haemophilus influenzae adhesin

Protein E (PE) of Haemophilus influenzae is a highly conserved ubiquitous surface protein involved in adhesion to and activation of epithelial cells. The host proteins-vitronectin, laminin, and plasminogen are major targets for PE-dependent interactions with the host. To identify novel inhibitory molecules of PE, we used an in vitro selection method based on systematic evolution of ligands by expo

Long-Term Cognitive Sequelae After Pediatric Brain Tumor Related to Medical Risk Factors, Age, and Sex

BACKGROUND: Young age at diagnosis and treatment with cranial radiation therapy are well studied risk factors for cognitive impairment in pediatric brain tumor survivors. Other risk factors are hydrocephalus, surgery complications, and treatment with intrathecal chemotherapy. Female gender vulnerability to cognitive sequelae after cancer treatment has been evident in some studies, but no earlier s

Protein kinase A (PKA) pathway is functionally linked to androgen receptor (AR) in the progression of prostate cancer.

OBJECTIVES: In the present study, we investigated whether the cyclic adenosine monophosphate (cAMP)-activated protein kinase A (PKA) pathway may regulate the expression of AR and prostate-specific antigen (PSA) and whether there is a correlation between the expression of cAMP/PKA-associated genes and androgen receptors (ARs) in patients with prostate cancer (CaP). MATERIALS AND METHODS: The functi

Realization of single and double axial InSb-GaSb heterostructure nanowires

Heteroepitaxial growth of III-Sb nanowires allows for the formation of various interesting complex structures and enables the combination of their remarkable properties. In this Letter, we investigate the heteroepitaxial growth of Au-seeded InSb and GaSb nanowires using metalorganic vapor phase epitaxy. We demonstrate successful single and double axial InSb-GaSb heterostructures in both directions

Radiation-induced trismus in the ARTSCAN head and neck trial.

Trismus, a well-known sequelae after treatment of head and neck cancer, decreases a patient's oral function and quality of life. The main objectives of this study were to: 1) investigate the long-term prevalence of radiation-induced trismus in patients treated for head and neck cancer according to two different fractionation schedules; and 2) model a dose-response relationship for trismus. Materia

Strange history: the fall of Rome explained in Hereditas.

In 1921 Hereditas published an article on the fall of Rome written by the famous classical scholar Martin P:son Nilsson. Why was a paper on this unexpected topic printed in the newly founded journal? To Nilsson, the demise of the Roman Empire was explained by the "bastardization" occurring between "races" from different parts of the realm. Offspring from mixed couples were of a less stable "type"

Grain market integration in the Baltic Sea Region in the 19th century

This paper explores the development of market integration within the Baltic Sea region and with England, from the 1840s to the late 1880s. It exploits two new datasets on grain prices. The degree of market integration is estimated using a wavelet variant of dynamic factor analysis which takes account of both time and distance. Additionally, we use the London corn market as the benchmark for the de

Quantification of sphingosine 1-phosphate by validated LC-MS/MS method revealing strong correlation with apolipoprotein M in plasma but not in serum due to platelet activation during blood coagulation.

Sphingosine 1-phosphate (S1P) is a signalling sphingolipid affecting multiple cellular functions of vascular and immune systems. It circulates at submicromolar levels bound to HDL-associated apolipoprotein M (apoM) or to albumin. S1P in blood is mainly produced by platelets and erythrocytes, making blood sampling for S1P quantification delicate. Standardisation of sampling is thereby of great impo

Gastrointestinal Stromal Tumor: A Method for Optimizing the Timing of CT Scans in the Follow-up of Cancer Patients.

Purpose To develop a mathematical model to adjust the timing of computed tomography (CT) scans with the hazard of cancer recurrence in time to facilitate early detection of cancer recurrence. Materials and Methods The clinical data were extracted from the randomized Scandinavian Sarcoma Group (SSG) XVIII/Arbeitsgemeinschaft Internistische Onkologie (AIO) trial database. The SSG XVIII/AIO trial was

Association between Subcortical Lesions and Behavioral and Psychological Symptoms in Patients with Alzheimer's Disease.

Background/Aims: The most devastating features of Alz-heimer's disease (AD) are often the behavioral and psychological symptoms in dementia (BPSD). There is controversy as to whether subcortical lesions contribute to BPSD. The aim of this study was to examine the relationship between BPSD and subcortical lesions (white-matter lesions and lacunes) in AD. Methods: CT or MRI from 259 patients with

Nordic MCL2 trial update: six-year follow-up after intensive immunochemotherapy for untreated mantle cell lymphoma followed by BEAM or BEAC plus autologous stem-cell support: still very long survival but late relapses do occur

Mantle cell lymphoma (MCL) is a heterogenic non-Hodgkin lymphoma entity, with a median survival of about 5 years. In 2008 we reported the early based on the median observation time of 4 years results of the Nordic Lymphoma Group MCL2 study of frontline intensive induction immunochemotherapy and autologous stem cell transplantation (ASCT), with more than 60% event-free survival at 5 years, and no s

Interactions between GaO4Al12(OH)(24)(H2O)(12)(7+) and cellulosic materials

The adsorption qualities of GaO4Al12(OH)(24)(H2O)(12)(7+), a polycation with epsilon-Keggin structure, and its stability in contact with anionic cellulosic materials, was investigated under different concentration and ionic strength conditions. The cellulosic materials employed were two different fully bleached fibre materials, carboxyl methyl cellulose (CMC), and a spin-coated cellulose model sur

Synthesis and evaluation of iminocoumaryl and coumaryl derivatized glycosides as galectin antagonists

A collection of iminocoumarylmethyl glycoside derivatives have been prepared by copper-catalyzed multi-component reaction of carbohydrate propargyl derivatives, sulfonyl azides, and salicylaldehyde or o-hydroxy acetophenone. The method is simple, versatile to all three components, and exceptionally high yielding. The carbohydrate N-sulfonyl iminocoumarine hybrid molecules were evaluated for bindin